Patient Stories

Meet some Miracle Kids:

At 2 years old, Alina is known as a ‘little firecracker’. She started as a 10 week premature infant in the NICU where she spent her first 90 days of life. She has endless energy, a wicked sense of humour, a determination for life that is truly inspiring, and an admiration that goes beyond all things for her sister, Liliane. Alina has 2 diagnosis; a rare association called VACTERL, and congenital Asplenia. She was also born with a cleft lip and partial palette. VACTERL is an acronym that refers to a non-random association of birth defects. You must have at least 3 of the 7 letters in the acronym to be diagnosed, and Alina happens to have each of them. The challenge with having a rare disease is that Alina’s family is often left to figure things out as they go, regardless of how supportive their medical team is - there is no guideline. Through the Rare Disease Foundation they havegained invaluable support, resources, and a community that speaks their language, which is huge! Alina’s family regularly explores and play in the forests, mountains, and the ocean in this beautiful province. Each member of the family adventures in their own way, but Alina is the most fearless and determined of them all!

Mason Ashton's Story

Mason appears to be a typical seven-year-old boy, but his mother, Alana, noticed in infancy that he wasn't quite the same as others his age. These differences led her to investigate her own health issues.

Within a year, Alana and Mason were both diagnosed with a genetic disorder called Ehlers-Danlos Syndrome, or EDS. EDS affects the collagen, the "glue", that holds the body together. As a result, Mason's skin tears and bruises easily, his joints are unstable and sore, and he's chronically fatigued. The "glue" in his heart and aorta are also affected putting him at risk for sudden death.

Mason has some physical limitations related to his disorder but with the support of his care team, he's able to lead a fulfilled childhood. He thrives in nature, loves vanilla ice cream, hedgehogs, and he enjoys playing with his dog Sully, and his younger sister, Evelyn.

There still remain many questions about his disorder, and research into rare diseases is imperative for proper treatment and care.

Jaxton Tory's Story

Like most 3-year-old's Jaxton is very busy. He enjoys swimming, music, and playing with friends. But unlike other kids, Jaxton was born with a rare genetic disorder called Cri du Chat. This micro-deletion on his 5th chromosome has a variety of symptoms that differ with every person affected, but can include learning delays, feeding difficulties, and physical abnormalities.

Since he was born, Jaxton has been followed by 11 departments at BCCH and the whole family receives support from the Rare Disease Foundation. Research of rare disorders is fundamental to help improve the lives of children like Jaxton and their families.

Zachary Jordan’s Story

Zach has a plan to go to UBC to get his Marine Biology degree; he knows he wants to specialize in the deep ocean and its mysteries. However, Zach is not your typical 13-year-old.

Perhaps living with rare disease primed the pump for his inquiring mind. When he started kindergarten he was the size of a typical two-year-old. His medical geneticist knew he had some form of dwarfism, but it didn’t match any of the over-200 known forms. At age six, his family was blindsided when an ultra-rare tumour was found in his jaw that required a 14-hour surgical reconstruction of his face.

Now at 13, the mystery deepens as fatigue and pain forced him to shift to a half time schedule at school and a much slower-paced social life. Zach and his family, like many with a rare disease, are still searching for answers. Research is their hope. But Zach understands; he knows research is in his future too.

Jack Drover’s Story

Jack’s first two days of life were typical: full of crying, bouncing, rocking and some sporadic sleeping. However, as Jack’s parents, Sasa and Stephen, were packing up to take Jack home for the first time, they realized he hadn’t yet had a dirty diaper. The staff at BC Women’s Hospital went into action and a thorough exam revealed that Jack was born without an anus. He was immediately rushed to the operating room for corrective surgery before a potentially fatal bowel rupture could occur.

During Jack’s recovery, it was discovered that he had many other birth defects to his kidney, spine, forearm and palate. Medical geneticists diagnosed Jack with VACTERL association, a rare syndrome that causes malformations of organs and bones, many of which require corrective surgeries. Jack’s second surgery was performed on his spine at four months old and his third at nine months to correct his cleft palate. His family is currently waiting to see if other surgeries will be required for this coming year.

As Jack’s condition requires care from seven different specialties at BC Children’s Hospital, Jack and his parents are familiar with almost every square inch of BC Children’s. As the province’s only pediatric hospital, BC Children’s is the only place where Jack can get all the care in needs in one place, from a wide range of nurses, assistants, specialists and surgeons. Sasa and Stephen’s gratitude for the care Jack has received knows no bounds. Jack has had the benefit of the best minds, hands and hearts in the country.

The whole family continues to receive support from the genetic counsellors at Children’s Hospital and the Rare Disease Foundation to help map out what challenges Jack will face in the future. The toddler is also helping researchers to determine the factors that cause VACTERL association by participating in a study at the hospital.

Looking at Jack, no one would suspect that this curious and sociable one-year-old has had such a bumpy start to life. Sasa and Stephen definitely sleep better at night knowing that the best care Jack could possibly receive is a 10-minute drive from their East Vancouver home.

Grayson McGill’s Story

Grayson McGill has a rare metabolic disorder that makes him susceptible to life-threatening side effects if his food intake is not carefully monitored. While Grayson, with his chubby cheeks and saucer-shaped eyes, looks like a normal child on the outside, he’s forever one chocolate bar away from potential brain damage.

Called Maple Syrup Urine Disease (MSUD), Grayson’s condition causes amino acids from proteins to accumulate in the body. The toxicity it causes can lead to brain swelling, mental retardation, coma and even death. Grayson’s parents, Chad and Wayne, must measure the amino acids the toddler consumes down to the milligram; if they are off, the results could be catastrophic. Chad and Wayne do not have a medical background, but they have become quick studies in MSUD. Grayson’s diagnosis was made just after he’d undergone open-heart surgery to repair life-threatening defects. The operation was successful, but a few hours later, his new parents were told that he had the disease.

A neurologist had noticed subtle swelling in his brain and became concerned about a metabolic condition. Because BC Children’s Hospital screens for MSUD, doctors were able to quickly respond to Grayson’s unusual dietary needs. Without the screening, Grayson might have died post-surgery and nobody would have known why.

Thanks to his fathers’ diligence and the excellent care he receives at BC Children’s Hospital, Grayson has a chance at life that previous generations would never receive.

Claire Pak's Story

Seldom do we realize the issues others face silently. On the outside Claire is a typical, vibrant teenager who enjoys playing sports. On the inside she suffers from an ultra-rare disease that has caused the bones on the ends of her toes to dissolve. She has been taking medication for more than 10 years to manage her condition and endures regular toe pain and cold sensitivity.

Claire was seven years old when her toes began to swell as if her nails had become infected and a white chalky substance broke through her skin. X-rays confirmed that she has acro-osteolysis. She is the only known case in the world with her symptoms and no one knows the exact cause of Claire's condition.

Short stubby toes may seem insignificant when compared to other life-threatening symptoms that children have but a chronic disease of any kind becomes a part of one’s identity. Claire says that she never forgets she has something wrong with her body. While her classmates may know she takes a handful of pills during lunch they will never realize the pain she endures while standing in goal during a cold rainy soccer match.

Without Dr. Milan Patel at BC Children’s Hospital who is committed to finding treatments for rare conditions, Claire would likely have lost all her toes. Thanks to Dr. Patel’s research he discovered that repurposing a drug used to treat other conditions allows the cells responsible for bone regeneration to work more effectively in Claire’s body, enabling her to have a higher quality of life.

Miranda Friz's Story

Miranda was born in 2005. She has fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder characterized by soft tissue swellings in which muscle, ligament or tendon cells are destroyed and replaced by bone. Only one in two million children has this disease, which eventually leads to locked joints and immobilization. There is currently no cure for FOP.

When Miranda was born, the only sign of anything unusual was in her big toes, which had bunion-like bumps. When she was two Miranda began to show more symptoms and since then, her life has changed dramatically. The disease has caused Miranda’s back and neck to become rigid with bone growth, and her shoulders and elbows are largely fused in place. She has to be extra careful to avoid bumps and falls since even minor traumas can cause flare-ups.

Despite these restrictions, Miranda is a happy and delightful girl who enjoys school, swimming, attending Girl Guides, playing softball and making trouble with her older brother.

Amélie Munn-Andres's Story

Amélie is a bright and energetic eight-year-old whose vivacity hides her medical challenges. Suffering from a rare genetic disorder that affects many of her body's systems, Amélie has benefitted from BC Children's Hospital's Cardiology, Respirology, Emergency, Intensive Care, orthopedics, neurology, plastics and Immunology services, just to name a few. Over her eight years, Amélie has endured a great deal, including two open heart surgeries and innumerable hospital stays and clinic visits. She has visited BC Children’s Emergency department at least 100 times! Her family attributes her survival and subsequent quality of life to the research and the resulting medical advancements of the medical professionals at Children's and the Child & Family Research Institute. Because of the care she has received, Amélie happily attends grade three, enjoys violin lessons and participates in dance and gymnastics classes. Given her condition, these normal, everyday activities were not something her family could take for granted. It is a real medical triumph that Amelie functions so well. In fact, she is a competitive gymnast with some lofty goals!

While her cluster of ailments may be unusual, research into her condition is also having an impact on a wide array of genetic illnesses. While Amélie doesn't yet comprehend to what degree she has beaten the odds, her family does, and hopes that the research done on her behalf will keep improving her life and the lives other children like her.

Lucas Eisenkraft’ Story

Underneath Lucas Eisenkraft’s heart-warming smile, he battles a little-known disease originating from within his own immune system. Lucas was diagnosed at BC Children’s Hospital at just five months old with a rare disease called mastocytosis. The condition causes an overproduction of mast cells – important immune system cells that are involved allergic reactions, wound healing and defense against disease – in the skin and internal systems in his body. Not contagious, the disease has no known cure, but affects hundreds of people in Canada.

Lucas has permanent reddish-brown spots throughout his skin, from his head to the bottoms of his feet. These spots are visible to others, but the disease also lies beneath his skin, and he requires bone marrow testing to determine what other systems in his body carry the abundance of mast cells. Mast cells release histamine and other substances the body needs to protect itself. But due to the excessive amounts of mast cells in Lucas’ body, very large amounts of histamine and a hundred other chemicals are released into his bloodstream when the cells are triggered. Common triggers include hot or cold temperatures, pressure, friction, physical and emotional stress, scented products, foods high in histamine, preservatives, additives, dyes, artificial flavors, aspirin, antibiotics, anesthetics, alcohol, and much, much more.

Lucas’ symptoms range from mild to severe. He gets hives, blisters, itchiness, bone and muscle pain, headaches and irritability, nausea, vomiting and diarrhea. The most serious include a dangerous drop in blood pressure, rapid heartbeat, swelling and difficulty breathing, and at worst, anaphylaxis – a life-threating allergic reaction.

Though the disease is hard on Lucas, when he’s feeling good he loves to laugh and has a wonderful sense of humor. Despite these challenges, Lucas is a resilient kid, and like any other little brother, continuously tries to keep up with his older brother.